A grandpaternally derived de novo deletion within Xp21 initially presenting in carrier females diagnosed as Kugelberg-Welander syndrome.

Wood, S; Shukin, R J; McGillivray, B C; Ray, P N; Worton, R G

Wood, S; Shukin, R J; McGillivray, B C; Ray, P N; Worton, R G.

Affiliation

Wood S; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

Am J Med Genet ; 29(2): 419-23, 1988 Feb.

Article in En | MEDLINE | ID: mdl-2895584

Subject(s)

Muscular Diseases/genetics; Muscular Dystrophies/genetics; Sex Chromosome Aberrations/genetics; X Chromosome; Chromosome Deletion; Heterozygote; Pedigree; Polymorphism, Restriction Fragment Length; Syndrome

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Collection: 01-internacional Database: MEDLINE Main subject: Sex Chromosome Aberrations / X Chromosome / Muscular Diseases / Muscular Dystrophies Type of study: Diagnostic_studies / Prognostic_studies Language: En Journal: Am J Med Genet Year: 1988 Type: Article Affiliation country: Canada

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